Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804257 | SCV000944157 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2019-12-17 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 8 of the GALT gene. It does not directly change the encoded amino acid sequence of the GALT protein. This variant is present in population databases (rs767337193, ExAC 0.08%). This variant has been observed on the opposite chromosome (in trans) from other pathogenic variants in individuals with GALT-related conditions (PMID: 20547145, 25124065). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Experimental studies have shown that this intronic change leads to a splicing defect (PMID: 20547145) For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000804257 | SCV001163246 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | criteria provided, single submitter | clinical testing |